Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Clinical Services Laboratory, |
RCV000358488 | SCV000477228 | uncertain significance | Charcot-Marie-Tooth disease, type 2 | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000440342 | SCV000521921 | likely benign | not specified | 2017-06-22 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000552204 | SCV000652027 | benign | Charcot-Marie-Tooth disease type 2P | 2019-12-31 | criteria provided, single submitter | clinical testing |